Read by QxMD icon Read

Fetal screening

Rui Zhang, Caihong Huo, Xingning Wang, Bo Dang, Yaning Mu, Yuying Wang
BACKGROUND/AIMS: Published studies indicated that the MTHFR gene polymorphisms C677T and A1298C are associated with congenital heart disease (CHD) risk in children, but obtained inconsistent results. Our study aims to reach a more accurate association between these two polymorphisms and CHD risk. METHODS: Eligible studies were obtained by screening the PubMed, Embase, China National Knowledge Infrastructure, Wan Fang and VIP databases based on designed searching strategy...
March 15, 2018: Cellular Physiology and Biochemistry
Chitra Andrew, Teena Koshy, Shivani Gopal, Solomon Franklin Durairaj Paul
This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Şifa Turan, Özhan M Turan
The ductus venosus is a fetal vessel that functions importantly in the transfer of oxygen-and nutrient-rich blood from the umbilical vein to vital organs. Its control under active regulation and its anatomy result in a flow-velocity profile that is typically forward throughout the cardiac cycle. This forward cardiac function reflects afterload, cardiac contractility, compliance, and vascular volume changes. Ductus venosus assessment gives valuable information under different fetal conditions. For example, during first trimester screening, an abnormal ductus venosus measurement changes the screening result...
March 15, 2018: Balkan Medical Journal
Kathryn J Gray, Louise E Wilkins-Haug
Prenatal aneuploidy screening changed significantly in 2012 when cell-free fetal deoxyribonucleic acid (DNA) was introduced as a noninvasive prenatal test. A noninvasive prenatal test detects cell free fragments of fetal DNA from the placenta circulating in maternal blood that coexist with cell-free DNA (cfDNA) of maternal origin. Using next-generation sequencing, the noninvasive prenatal test compares maternal and fetal cfDNA ratios for chromosomes of interest (i.e., 21, 18, 13, X, and Y) to assess chromosomal aneuploidy...
April 2018: Pediatric Radiology
Erol Arslan, Selim Büyükkurt, Mete Sucu, Mehmet Özsürmeli, Selahattin Mısırlıoğlu, S Cansun Demir, I Cüneyt Evrüke
OBJECTIVE: Fetal structural malformations affect approximately 2-3% of all pregnancies. Only focusing on trisomy screening in first trimester and deferring the anatomical screening to second trimester may result with late detection of major anomalies that can be diagnosed earlier with a careful examination. MATERIAL AND METHODS: This was a descriptive study retrospective data that was obtained from all terminated single pregnancies due to ultrasonographic findings of major anomalies from 2011 to 2016 in our department...
March 16, 2018: Journal of the Turkish German Gynecological Association
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Plansky Hoang, Jason Wang, Bruce R Conklin, Kevin E Healy, Zhen Ma
The creation of human induced pluripotent stem cells (hiPSCs) has provided an unprecedented opportunity to study tissue morphogenesis and organ development through 'organogenesis-in-a-dish'. Current approaches to cardiac organoid engineering rely on either direct cardiac differentiation from embryoid bodies (EBs) or generation of aligned cardiac tissues from predifferentiated cardiomyocytes from monolayer hiPSCs. To experimentally model early cardiac organogenesis in vitro, our protocol combines biomaterials-based cell patterning with stem cell organoid engineering...
April 2018: Nature Protocols
Fredrik Dahl, Olle Ericsson, Olof Karlberg, Filip Karlsson, Mathias Howell, Fredrik Persson, Fredrik Roos, Johan Stenberg, Tarja Ahola, Ida Alftrén, Björn Andersson, Emelie Barkenäs, Birgit Brandner, Jenny Dahlberg, Sara Elfman, Magnus Eriksson, Per-Ola Forsgren, Niels Francois, Anna Gousseva, Faizan Hakamali, Åsa Janfalk-Carlsson, Henrik Johansson, Johanna Lundgren, Atefeh Mohsenchian, Linus Olausson, Simon Olofsson, Atif Qureshi, Björn Skarpås, Anna Sävneby, Eva Åström, Ove Öhman, Magnus Westgren, Helena Kopp-Kallner, Aino Fianu-Jonasson, Argyro Syngelaki, Kypros Nicolaides
Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing...
March 14, 2018: Scientific Reports
Wasco Wruck, James Adjaye
Induced pluripotent stem cells (iPSCs) and human embryonic stem cells (hESCs) differentiated into hepatocyte-like cells (HLCs) provide a defined and renewable source of cells for drug screening, toxicology and regenerative medicine. We previously reprogrammed human fetal foreskin fibroblast cells (HFF1) into iPSCs employing an episomal plasmid-based integration-free approach, this iPSC-line and the hESC lines H1 and H9 were used to model hepatogenesis in vitro. Biochemical characterisation confirmed glycogen storage, ICG uptake and release, urea and bile acid production, as well as CYP3A4 activity...
March 13, 2018: Scientific Data
Esra Ozkavukcu, Andelib Babaturk, Nuray Haliloglu, Tuncay Yuce, Tayfun Ucar
Congenital aneurysms and diverticula of the heart are rare anomalies and their prenatal diagnosis is challenging. Fetuses with suspected cardiac aneurysms on ultrasound (US) screening should undergo targeted fetal echocardiography, postnatal imaging, and follow-ups. Herein, we describe the second trimester US scan and postnatal cardiac magnetic resonance imaging (MRI) findings of a baby girl with concurrent septal and right ventricular cardiac aneurysms. Other cardiac and extra-cardiac structures were normal...
February 2018: Eurasian Journal of Medicine
Sara Filoche, Beverley Lawton, Angela Beard, Anthony Dowell, Peter Stone
Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value...
December 2017: Journal of Primary Health Care
Kathryn M Reese, Jennifer Czerwinski, Sandra Darilek, Anthony Johnson, Malorie Jones, Claire N Singletary
The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15)...
March 10, 2018: Journal of Genetic Counseling
Emmanuel Bujold, Nan Okun, Jo-Ann Johnson, Francois Audibert
No abstract text is available yet for this article.
March 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Alexander N Yatsenko, Paul J Turek
PURPOSE: To examine current evidence of the known effects of advanced paternal age on sperm genetic and epigenetic changes and associated birth defects and diseases in offspring. METHODS: Review of published PubMed literature. RESULTS: Advanced paternal age (> 40 years) is associated with accumulated damage to sperm DNA and mitotic and meiotic quality control mechanisms (mismatch repair) during spermatogenesis. This in turn causes well-delineated abnormalities in sperm chromosomes, both numerical and structural, and increased sperm DNA fragmentation (3%/year of age) and single gene mutations (relative risk, RR 10)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
Neeta L Vora, Lisa Hui
No abstract text is available yet for this article.
March 6, 2018: Seminars in Fetal & Neonatal Medicine
J Pavlíček, E Klásková, E Doležálková, D Matura, R Špaček, T Gruszka, S Polanská, M Procházka
OBJECTIVE: To audit the development and success rate of prenatal detection of congenital heart defects (CHDs), and to evaluate the effectiveness of diagnostics performed in standardized scanning planes. SETTING: Department of Pediatrics, University Hospital Ostrava. DESIGN: Retrospective study. METHODS: Ultrasound examination of fetal heart (fetal echocardiography) was performed in the second trimester pregnancy. The observed region was the Moravian-Silesian region; the assessment was performed in the retrospective study performed between 2000- 2016...
2018: Ceská Gynekologie
Michelle E Miller, Victoria M Allen, Jo-Ann K Brock
OBJECTIVE: Fetal echogenic bowel (echogenic bowel) is associated with cystic fibrosis (CF), with a reported incidence ranging from 1% to 13%. Prenatal testing for CF in the setting of echogenic bowel can be done by screening parental or fetal samples for pathogenic CFTR variants. If only one pathogenic variant is identified, sequencing of the CFTR gene can be undertaken, to identify a second pathogenic variant not covered in the standard screening panel. Full gene sequencing, however, also introduces the potential to identify variants of uncertain significance (VUSs) that can create counselling challenges and cause parental anxiety...
March 1, 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Tamer M A Mohamed, Yen-Sin Ang, Ethan Radzinsky, Ping Zhou, Yu Huang, Arye Elfenbein, Amy Foley, Sergey Magnitsky, Deepak Srivastava
Human diseases are often caused by loss of somatic cells that are incapable of re-entering the cell cycle for regenerative repair. Here, we report a combination of cell-cycle regulators that induce stable cytokinesis in adult post-mitotic cells. We screened cell-cycle regulators expressed in proliferating fetal cardiomyocytes and found that overexpression of cyclin-dependent kinase 1 (CDK1), CDK4, cyclin B1, and cyclin D1 efficiently induced cell division in post-mitotic mouse, rat, and human cardiomyocytes...
February 22, 2018: Cell
Sissel Kramer Aagaard, Agnete Larsen, Mette Findal Andreasen, Iana Lesnikova, Rasmus Telving, Anna Louise Vestergaard, Niels Tørring, Niels Uldbjerg, Pinar Bor
OBJECTIVE: The aim of this study was to investigate the prevalence of xenobiotic substances, such as caffeine, nicotine and illicit drugs (eg, cannabis and cocaine), in blood samples from first-trimester Danish pregnant women unaware of the screening. DESIGN: A cross - sectional study examined 436 anonymised residual blood samples obtained during 2014 as part of the nationwide prenatal first-trimester screening programme. The samples were analysed by ultra performance liquid chromatography with high-resolution time-of-flight mass spectrometry...
March 3, 2018: BMJ Open
Arkadiusz Krzyżanowski, Dariusz Swatowski, Tomasz Gęca, Maciej Kwiatek, Aleksandra Stupak, Sławomir Woźniak, Anna Kwaśniewska
BACKGROUND: Persistent right umbilical vein (PRUV) is usually an isolated finding but it may be accompanied by other fetal malformations. AIMS: We aimed to determine the incidence of prenatally diagnosed PRUV in a referral population, assess the neonatal outcome and discuss the findings together with those from previous publications. MATERIALS AND METHODS: A total of 2360 women with low-risk singleton pregnancies were examined in the second and third trimesters...
March 2, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"